A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario.Methods: This study...
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Frontiers Media S.A.
2023-05-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1140083/full |
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| author | Leilei Ding Duoduo Zhang Fengxia Yao Min Luo Shan Deng Qinjie Tian Qinjie Tian |
| author_facet | Leilei Ding Duoduo Zhang Fengxia Yao Min Luo Shan Deng Qinjie Tian Qinjie Tian |
| author_sort | Leilei Ding |
| collection | DOAJ |
| description | Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario.Methods: This study is a retrospective analysis of CAIS cases in a three-generation pedigree. The patients’ genomes were determined by sequencing the androgen receptor (AR) gene. The clinical data of the patients, including manifestations, hormone levels, and AR variants, were analyzed.Results: Sixteen people in this family were involved. A deletion variant (c.1847_1849del; p. Arg616del) was identified in exon 3 of AR, which encodes the DNA binding domain. Until now, four patients and four carriers have been identified in three generations of this family. All the patients live as female, and one has developed gonadal malignancy.Conclusion: The present study identified a deletion variant in three generations of a family with CAIS, including four carriers and four patients. This study verified the genetic pattern and the corresponding clinical characteristics of CAIS. Furthermore, a case with gonadal malignancy was discovered. The information on diagnosis and treatment in this pedigree is useful for prenatal diagnosis and genetic counseling of similar families. |
| first_indexed | 2024-03-13T10:25:52Z |
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| id | doaj.art-8437038423404fa6902a91de6b358c38 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-13T10:25:52Z |
| publishDate | 2023-05-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj.art-8437038423404fa6902a91de6b358c382023-05-19T09:15:48ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-05-011410.3389/fgene.2023.11400831140083A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndromeLeilei Ding0Duoduo Zhang1Fengxia Yao2Min Luo3Shan Deng4Qinjie Tian5Qinjie Tian6National Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, ChinaNational Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, ChinaClinical Research Laboratory, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, ChinaNational Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, ChinaNational Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, ChinaNational Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, ChinaCenter for Rare Diseases Research, Chinese Academy of Medical Sciences, Beijing, ChinaBackground: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario.Methods: This study is a retrospective analysis of CAIS cases in a three-generation pedigree. The patients’ genomes were determined by sequencing the androgen receptor (AR) gene. The clinical data of the patients, including manifestations, hormone levels, and AR variants, were analyzed.Results: Sixteen people in this family were involved. A deletion variant (c.1847_1849del; p. Arg616del) was identified in exon 3 of AR, which encodes the DNA binding domain. Until now, four patients and four carriers have been identified in three generations of this family. All the patients live as female, and one has developed gonadal malignancy.Conclusion: The present study identified a deletion variant in three generations of a family with CAIS, including four carriers and four patients. This study verified the genetic pattern and the corresponding clinical characteristics of CAIS. Furthermore, a case with gonadal malignancy was discovered. The information on diagnosis and treatment in this pedigree is useful for prenatal diagnosis and genetic counseling of similar families.https://www.frontiersin.org/articles/10.3389/fgene.2023.1140083/fullandrogen receptorcomplete androgen insensitivity syndromegonadal malignancyvariantX-linked recessive inheritance |
| spellingShingle | Leilei Ding Duoduo Zhang Fengxia Yao Min Luo Shan Deng Qinjie Tian Qinjie Tian A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome Frontiers in Genetics androgen receptor complete androgen insensitivity syndrome gonadal malignancy variant X-linked recessive inheritance |
| title | A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome |
| title_full | A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome |
| title_fullStr | A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome |
| title_full_unstemmed | A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome |
| title_short | A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome |
| title_sort | deletion variant arg616 of androgen receptor in a chinese family with complete androgen insensitivity syndrome |
| topic | androgen receptor complete androgen insensitivity syndrome gonadal malignancy variant X-linked recessive inheritance |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1140083/full |
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